Details of Disease

General Information of Disease (ID: DIS94N80)

Disease Name Autosomal dominant Robinow syndrome
Synonyms Robinow syndrome, autosomal dominant type; autosomal dominant Robinow syndrome; Robinow syndrome, autosomal dominant
Definition Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Disease Hierarchy
DISK1CNU: Robinow syndrome
DIS3HIWD: Autosomal dominant disease
DIS94N80: Autosomal dominant Robinow syndrome
Disease Identifiers
MONDO ID
MONDO_0008389
UMLS CUI
C5200540
MedGen ID
1675001
Orphanet ID
3107
SNOMED CT ID
890233009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WNT5A OT27ZYKJ Moderate Autosomal dominant [1]
DVL1 OTD67RF1 Supportive Autosomal dominant [2]
DVL3 OTPRROHJ Supportive Autosomal dominant [3]
FZD2 OT952ML1 Supportive Autosomal dominant [4]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WNT5A TTKG7F8 Moderate Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.
3 DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25.
4 WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.